Loading Events

« All Events

  • This event has passed.

Rare disease diagnostics: Bringing genomics to the clinic

June 25, 2015 @ 6:00 pm - 9:00 pm

DNA structure CGI image. Researching the rare
50 / 100

WE ARE FULLY BOOKED – please do register on the waitlist and join us early, we do expect some last minutes dropouts.

Genomic medicine is changing our world. The rapid decrease of the price of DNA sequencing has opened up numerous new possibilities, and is starting to enter clinical practice. 

However, even though we understand the genetic causes of 50% of rare diseases, early diagnostics remains a challenge. In the UK, it still takes an average of 6 years and visits to 8 doctors to get a diagnosis, and many people never get an answer at all.

By scanning through entire genomes at once, DNA sequencing has the potential to change this. Come discuss the opportunities and the challenges of this new technology in a clinical setting, with some of the experts in the field.

  • Invited organisations: 
    • Genomics England 
    • DDD project
    • PHG Foundation
    • DNAdigest
  • Agenda
  • 17.30: Doors open.
  • 18.00: Lecture/panel discussion and Q&A’s (10-15 min per speaker).
  • 19.30: Wine reception.
  • 21.00: End of event.
  • Speakers: 
  • Dr Caroline Wright, Project Manager, DDD project
  • Dr Gemma Chandratillake, Genetic Counsellor and Product Manager, Personalis
  • Dr Fiona Nielsen, Founder of DNAdigest
  • Dr Sobia Raza, Science Programme Lead, PHG Foundation
We are looking forward seeing you at the event.


With warm wishes,

The CRDN Team

Cambridge Rare Disease Network - Rare disease diagnostics: Bringing genomics to the clinic 1

CRDN is a non-profit organisation aiming to create rare disease awareness and build a community within the Cambridge area. We are kindly supported by Findacure, Rare Disease UK, Genetic Disorders UK, Utah Rare, Cambridge Judge Business School, One Nucleus, BioBeat, Innovation Forum, Stevenage Bioscience Catalyst and Global Biotech Revolution, amongst others.



Cambridge Judge Business School
Trumpington Street
Cambridge, Cambridgeshire CB2 1AG United Kingdom
+ Google Map